疾病名称 |
别名 |
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Intellectual Developmental Disorder, Autosomal Dominant 21 |
MRD21
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Mental Retardation, Autosomal Dominant 21
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Autosomal Dominant Non-Syndromic Intellectual Disability 21
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Autosomal Dominant Intellectual Developmental Disorder 21
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Autosomal Dominant Mental Retardation 21
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Ctcf-Related Neurodevelopmental Disorder
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Mental Retardation, Autosomal Dominant, Type 21
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Acute Megakaryoblastic Leukemia In Down Syndrome |
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Beckwith-Wiedemann Syndrome |
Wiedemann-Beckwith Syndrome
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BWS
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Exomphalos-Macroglossia-Gigantism Syndrome
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Emg Syndrome
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Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation
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Emg Abnormality
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Wbs
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Exomphalos Macroglossia Gigantism Syndrome
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Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation
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Macroglossia Exomphalos Gigantism
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Uterine Corpus Endometrial Carcinoma |
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North American Indian Childhood Cirrhosis |
NAIC
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Hereditary North American Indian Childhood Cirrhosis
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Cirrhosis, North American Indian Childhood Type
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Cirrhosis, Childhood, North American Indian
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Congenital Mesoblastic Nephroma |
Mesoblastic Nephroma
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Nephroma, Mesoblastic
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Friedreich Ataxia |
Friedreich Ataxia 1
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FRDA
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Friedreich Ataxia With Retained Reflexes
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Frda1
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Fa
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Friedreich'S Ataxia
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Hereditary Spinal Ataxia
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Fa1
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Friedreich'S Tabes
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Hereditary Spinal Sclerosis
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Spinocerebellar Ataxia, Friedreich
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Friedreich Spinocerebellar Ataxia
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Friedrich'S Ataxia
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Non-Syndromic X-Linked Intellectual Disability 89 |
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Nephroma |
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Mental Retardation, X-Linked 92 |
MRX92
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Intellectual Developmental Disorder, X-Linked 92
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Non-Syndromic X-Linked Intellectual Disability 92
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X-Linked Mental Retardation 92
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Mental Retardation, X-Linked, Type 92
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Rett Syndrome |
Atypical Rett Syndrome
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RTT
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Rett Disorder
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Rts
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Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use
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Rett Syndrome, Preserved Speech Variant
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Rett Syndrome, Atypical
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Rett'S Disorder
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Rett Syndrome Variant
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Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
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Cerebroatrophic Hyperammonemia
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Rett Like Syndrome
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Rett'S Syndrome
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Atypical Rtt
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Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use
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Rett Syndrome Preserved Speech Variant
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Rett Syndrome Zappella Variant
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Rett Syndrome, Zappella Variant
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Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
PKD3
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Polycystic Kidney Disease, Adult, Type Iii
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Apkd3
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Polycystic Kidney Disease 3
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Polycystic Kidney Disease, Type 3
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Polycystic Kidney Disease 3 Without Polycystic Liver Disease
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Polycystic Kidney Disease 3, Autosomal Dominant
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Silver-Russell Syndrome 1 |
Silver-Russell Syndrome
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Russell-Silver Syndrome
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Silver-Russell Dwarfism
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Rss
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SRS1
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Srs
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Silver Russell Dwarfism
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Russell Silver Syndrome
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Silver Russell Syndrome
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Facioscapulohumeral Muscular Dystrophy 1 |
Facioscapulohumeral Muscular Dystrophy
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Fshd
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Landouzy-Dejerine Muscular Dystrophy
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Muscular Dystrophy, Facioscapulohumeral
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FSHD1
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Fshd1a
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Muscular Dystrophy, Facioscapulohumeral, Type 1a
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Facioscapulohumeral Muscular Dystrophy Type 1a
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Fsh Muscular Dystrophy
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Facioscapulohumeral Muscular Dystrophy 1a
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Facioscapulohumeral Atrophy
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Facioscapulohumeral Myopathy
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Muscular Dystrophy, Facioscapulohumeral, Type 1
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Facioscapulohumeral Muscular Dystrophy Type 1
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Landouzy Dejerine Muscular Dystrophy
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Muscular Dystrophy, Landouzy-Dejerine
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Fshmd1a
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Facio-Scapulo-Humeral Dystrophy
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Facioscapulohumeral Type Progressive Muscular Dystrophy
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Facioscapuloperoneal Muscular Dystrophy
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Facioscapulohumeral Dystrophy
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Fsh Dystrophy
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Landouzy-Dejerine Dystrophy
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Landouzy-Dejerine Myopathy
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Fmd
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Facioscapulohumeral Muscular Dystrophy-1a
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Muscular Dystrophy Facioscapulohumeral
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Dystrophy, Muscular, Facioscapulohumeral
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Dystrophy, Muscular, Facioscapulohumeral, Type 1
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Landouzy-Dejerine Disease
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Landouzy-Déjerine Atrophy
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Facioscapulohumeral Muscle Dystrophy
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Fmd - [Facioscapulohumeral Muscular Dystrophy]
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Fsh - [Facioscapulohumeral Muscular Dystrophy]
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Fshd - [Facioscapulohumeral Muscular Dystrophy]
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Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy
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Landouzy-Déjérine Muscular Dystrophy
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Prion Disease |
Spongiform Encephalopathy
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Transmissible Spongiform Encephalopathies
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Prion Diseases
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Prion Disease Pathway
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Transmissible Spongiform Encephalopathy
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Prion Induced Disorder
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Prion Protein Disease
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Inherited Human Transmissible Spongiform Encephalopathies
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Prion Protein Diseases
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Prion-Associated Disorders
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Prion-Induced Disorders
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Transmissible Dementias
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Tses
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Human Prion Disease
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Tse
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Encephalopathy, Transmissible Spongiform
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Prion Disease, Susceptibility To
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Spongiform Encephalopathies
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Human Transmissible Spongiform Encephalopathies, Inherited
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Corneal Dystrophy, Posterior Polymorphous, 4 |
PPCD4
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Posterior Polymorphous Corneal Dystrophy 4
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Hyperoxaluria, Primary, Type I |
Primary Hyperoxaluria Type 1
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HP1
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Glycolic Aciduria
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Alanine-Glyoxylate Aminotransferase Deficiency
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Hepatic Agt Deficiency
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Oxalosis I
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Primary Hyperoxaluria, Type I
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Serine:Pyruvate Aminotransferase Deficiency
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Hyperoxaluria, Primary, Type 1
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Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency
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Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency
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Serine Pyruvate Aminotransferase Deficiency
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Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency
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Oxalosis 1
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Hyperoxaluria Primary 1
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Hyperoxaluria Primary Type I
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Ph1
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Primary Hyperoxaluria Type I
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Oxalosis Type 1
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2-Oxoglutarate Glyoxylate Carboligase Deficiency
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Bladder Cancer |
Urinary Bladder Cancer
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Bladder Carcinoma
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Urinary Bladder Carcinoma
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Bladder Neoplasm
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Bladder Tumor
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Cancer, Bladder
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Malignant Neoplasm Of Urinary Bladder
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Carcinoma Of Bladder
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Bladder Cancer, Somatic
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Tumor Of The Bladder
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Carcinoma Of Urinary Bladder
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Bladder Carcinoma Urinary
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Cancer Of The Urinary Bladder
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Cancer, Urinary Bladder
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Malignant Bladder Neoplasm
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Malignant Bladder Tumor
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Neoplasm Of The Bladder
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Neoplasm Of The Urinary Bladder
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Tumor Of The Urinary Bladder
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Urinary Bladder Neoplasm
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BLC
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Urothelial Carcinoma Of The Bladder
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Bladder Tumors
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Urinary Bladder Neoplasms
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Bladder Cancer Nos
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Vesical Cancer Nos
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Malignant Neoplasm Of Bladder, Part Unspecified
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Malignant Tumour Of Urinary Bladder
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Primary Malignant Neoplasm Of Bladder
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Endometrial Cancer |
Endometrial Carcinoma
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Endometrial Neoplasm
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Malignant Neoplasm Of Endometrium
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Endometrioid Carcinoma
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Endometrial Neoplasms
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Carcinoma, Endometrioid
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Endometrial Cancer, Familial
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Endometrial Carcinoma, Somatic
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Endometrial Cancer, Susceptibility To
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Endometrial Ca
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Malignant Endometrial Neoplasm
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Neoplasm Of Endometrium
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Primary Malignant Neoplasm Of Endometrium
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Tumor Of Endometrium
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Carcinoma Of The Endometrium
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Endometrioid Carcinoma Of Female Reproductive System
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ENDMC
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Carcinoma Endometrioid
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Endometrial Cancers
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Cancer, Endometrial
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Uterine Corpus Cancer
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Primary Hyperoxaluria |
Hyperoxaluria
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Hyperoxaluria, Primary
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Oxalosis
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Primary Oxalosis
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Congenital Oxaluria
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D-Glycerate Dehydrogenase Deficiency
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Glyceric Aciduria
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Glycolic Aciduria
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Hepatic Agt Deficiency
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Oxaluria, Primary
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Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency
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Primary Oxaluria
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Hyperoxaluria Primary
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Primary Hyperoxaluria Type 2
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Primary Hyperoxaluria, Type I
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Breast Cancer |
Breast Carcinoma
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Male Breast Cancer
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Breast Cancer, Familial
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Malignant Neoplasm Of Breast
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Breast Cancer, Susceptibility To
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Breast Cancer, Early-Onset
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Malignant Tumor Of Breast
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Carcinoma Of Male Breast
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Breast Cancer, Invasive Ductal
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Breast Cancer, Protection Against
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Breast Cancer, Somatic
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Breast Cancer, Male
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Breast Cancer, Lobular, Somatic
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Breast Tumor
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Mammary Cancer
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Mammary Tumor
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Malignant Neoplasm Of Male Breast
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Mammary Carcinoma
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Male Breast Carcinoma
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Familial Cancer Of Breast
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Invasive Ductal Breast Carcinoma
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Breast Cancer Susceptibility
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Breast Cancer, Male, Susceptibility To
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Breast Cancer, Early-Onset, Susceptibility To
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Malignant Tumor Of The Breast
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Mammary Neoplasm
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Primary Breast Cancer
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Neoplasm Of Male Breast
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Carcinoma Of Breast
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Breast Cancer In Men
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Familial Breast Cancer
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Cancer Of Breast
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BC
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Breast Cancer Familial
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Breast Cancer Familial Male
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Breast Cancer, Familial Male
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Breast Male Carcinoma
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Breast Neoplasms
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Breast Neoplasms, Male
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Mammary Tumors
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Mammary Carcinomas
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Cancer, Breast
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Cancer, Breast, Susceptibility
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Invasive Breast Ductal Carcinoma
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Breast Neoplasm
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Susceptibility To Breast Cancer
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Mammary Neoplasms
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Animal Mammary Neoplasms
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Primary Malignant Neoplasm Of Breast
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Infiltrating Ductal Carcinoma Of Breast
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Infiltrating Duct Carcinoma Of Unspecified Site
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Infiltrating Ductular Carcinoma Of Unspecified Site
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Invasive Breast Carcinoma Of No Special Type
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Microinvasive Carcinoma Of Breast
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Carcinoma With Apocrine Differentiation
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Cornelia De Lange Syndrome |
De Lange Syndrome
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Brachmann De Lange Syndrome
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Brachmann-De Lange Syndrome
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Cdls
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Bdls
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Typus Degenerativus Amstelodamensis
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Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome |
Icf Syndrome
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Immunodeficiency Syndrome, Variable
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Ciid
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Centromeric Instability, Immunodeficiency Syndrome
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Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16
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Icf
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Cartilage-Hair Hypoplasia |
Metaphyseal Chondrodysplasia, Mckusick Type
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CHH
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Mckusick Type Metaphyseal Chondrodysplasia
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Metaphyseal Dysplasia Without Hypotrichosis
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Cartilage Hair Hypoplasia Like Syndrome
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Metaphyseal Chondrodysplasia Mckusick Type
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Chhv
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Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only
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Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency
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Cartilage-Hair Syndrome
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Mckusick'S Metaphyseal Chondrodysplasia Syndrome
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Metaphyseal Chondrodysplasia, Recessive Type
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Autosomal Recessive Metaphyseal Chondrodysplasia
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Microcephaly |
Microencephaly
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Microcephalus
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Microcephalic
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Nanocephaly
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Congenital Microcephaly
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Brain Hypoplasia
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Brain Nondevelopment
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Cephalic Hypoplasia
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Undeveloped Cerebrum
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Undeveloped Brain
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Micrencephalon
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Micrencephaly
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Retinitis Pigmentosa 11 |
RP11
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Retinitis Pigmentosa-11
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Retinitis Pigmentosa, Type 11
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Alpha-Thalassemia |
Alpha Thalassemia
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Alpha Thalassaemia
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Alpha Plus Thalassemia
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Thalassemia, Alpha-
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Thalassemias, Alpha-
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A-Thalassemia
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Α-Thalassemia
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A-THAL
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Thalassemia
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Alpha Thalassaemia Syndrome
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Wilms Tumor 1 |
Nephroblastoma
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Wilms Tumor
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WT1
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Wilms' Tumor
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Bilateral Wilms Tumor
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Wilms Tumor, Type 1
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Wilms Tumor, Somatic
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Adult Nephroblastoma
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Wt1 Disorder
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Renal Embryonic Tumor
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Adult Kidney Wilms Tumor
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Childhood Kidney Wilms Tumor
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Nonanaplastic Kidney Wilms Tumor
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Leukemia, Acute Myeloid |
Acute Myeloid Leukemia
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Leukemia, Acute Myelogenous
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Acute Myelogenous Leukemia
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AML
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Leukemia, Acute Myeloid, Susceptibility To
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Acute Myeloblastic Leukemia
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Leukemia, Acute Myeloid, Reduced Survival In, Somatic
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Acute Myeloid Leukaemia
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Leukemia, Myelocytic, Acute
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Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome
|
Secondary Aml
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Acute Myelocytic Leukemia
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Acute Myeloid Leukemia, Somatic
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Leukemia, Acute Myeloid, Somatic
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Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic
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Acute Myeloblastic Leukaemia
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Acute Myelogenous Leukaemia
|
Aml - Acute Myeloid Leukemia
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Acute Myeloid Leukemia With Cebpa Somatic Mutations
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Aml With Cebpa Somatic Mutations
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Inherited Acute Myeloid Leukemia
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Familial Aml
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Inherited Aml
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Pure Familial Aml
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Pure Familial Acute Myeloid Leukemia
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Secondary Acute Myeloid Leukemia
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Therapy-Related Aml And Myelodysplastic Syndrome
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Acute Myeloid Leukemia, Secondary
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Acute Non-Lymphoblastic Leukemia
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Acute Non-Lymphocytic Leukemia
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Acute Biphenotypic Leukemia
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Acute Undifferentiated Leukemia
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Acute Myeloblastic Leukaemia With Multilineage Dysplasia
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Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission
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Acute Myeloid Leukaemia With Myelodysplasia-Related Features
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Retinitis Pigmentosa |
RP
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Rod-Cone Dystrophy
|
Autosomal Recessive Retinitis Pigmentosa
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Non-Syndromic Retinitis Pigmentosa
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Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
Tapetoretinal Degeneration
|
Rcd
|
Retinitis Pigmentosa Autosomal Recessive
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ARRP
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Retinitis Pigmentosa, Autosomal Recessive
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Retinitis Pigmentosa 1
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